Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome
DG Wang, JB Fan, CJ Siao, A Berno, P Young… - Science, 1998 - science.org
DG Wang, JB Fan, CJ Siao, A Berno, P Young, R Sapolsky, G Ghandour, N Perkins…
Science, 1998•science.orgSingle-nucleotide polymorphisms (SNPs) are the most frequent type of variation in the
human genome, and they provide powerful tools for a variety of medical genetic studies. In a
large-scale survey for SNPs, 2.3 megabases of human genomic DNA was examined by a
combination of gel-based sequencing and high-density variation-detection DNA chips. A
total of 3241 candidate SNPs were identified. A genetic map was constructed showing the
location of 2227 of these SNPs. Prototype genotyping chips were developed that allow …
human genome, and they provide powerful tools for a variety of medical genetic studies. In a
large-scale survey for SNPs, 2.3 megabases of human genomic DNA was examined by a
combination of gel-based sequencing and high-density variation-detection DNA chips. A
total of 3241 candidate SNPs were identified. A genetic map was constructed showing the
location of 2227 of these SNPs. Prototype genotyping chips were developed that allow …
Single-nucleotide polymorphisms (SNPs) are the most frequent type of variation in the human genome, and they provide powerful tools for a variety of medical genetic studies. In a large-scale survey for SNPs, 2.3 megabases of human genomic DNA was examined by a combination of gel-based sequencing and high-density variation-detection DNA chips. A total of 3241 candidate SNPs were identified. A genetic map was constructed showing the location of 2227 of these SNPs. Prototype genotyping chips were developed that allow simultaneous genotyping of 500 SNPs. The results provide a characterization of human diversity at the nucleotide level and demonstrate the feasibility of large-scale identification of human SNPs.
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